Canonical Allele Identifier: CA1192432153

Gene: PHGDH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119741874del , CM000663.2:g.119741874del	GRCh38
NC_000001.10:g.120284497del , CM000663.1:g.120284497del	GRCh37
NC_000001.9:g.120086020del	NCBI36
NG_009188.1:g.35079del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.1186del	ENSP00000358417.5:p.Leu396TrpfsTer2
ENST00000641023.2:c.1186del MANE Select	ENSP00000493175.1:p.Leu396TrpfsTer2
ENST00000641074.1:c.1079-933del	ENSP00000493446.1:n.1079-933del
ENST00000641115.1:c.946-933del	ENSP00000493264.1:n.946-933del
ENST00000641213.1:c.*839del	ENSP00000493079.1:n.*839del
ENST00000641314.1:n.1171del
ENST00000641375.1:c.*1022del	ENSP00000493089.1:n.*1022del
ENST00000641597.1:c.1186del	ENSP00000493382.1:p.Leu396TrpfsTer2
ENST00000641756.1:c.*930del	ENSP00000493147.1:n.*930del
ENST00000641811.1:c.702-2012del
ENST00000641891.1:c.*1012del	ENSP00000493288.1:n.*1012del
ENST00000641927.1:n.1126del
ENST00000641939.1:n.289del
ENST00000641947.1:c.1186del	ENSP00000492994.1:p.Leu396TrpfsTer?
ENST00000642021.1:n.1308del
ENST00000369407.3:c.1084del	ENSP00000358415.3:p.Leu362TrpfsTer2
ENST00000369409.8:c.1186del	ENSP00000358417.4:p.Leu396TrpfsTer2
ENST00000482968.1:n.1165del
NM_006623.3:c.1186del	NP_006614.2:p.Leu396TrpfsTer2
XM_011541226.1:c.1408del	XP_011539528.1:p.Leu470TrpfsTer2
XM_011541227.1:c.1330del	XP_011539529.1:p.Leu444TrpfsTer2
XM_011541228.1:c.1297del	XP_011539530.1:p.Leu433TrpfsTer2
XM_011541229.1:c.1123del	XP_011539531.1:p.Leu375TrpfsTer2
XM_011541230.1:c.901del	XP_011539532.1:p.Leu301TrpfsTer2
XM_011541231.1:c.892del	XP_011539533.1:p.Leu298TrpfsTer2
XM_011541226.2:c.1408del	XP_011539528.1:p.Leu470TrpfsTer2
XM_011541227.2:c.1330del	XP_011539529.1:p.Leu444TrpfsTer2
XM_011541228.2:c.1297del	XP_011539530.1:p.Leu433TrpfsTer2
XM_011541231.2:c.892del	XP_011539533.1:p.Leu298TrpfsTer2
XM_024446338.1:c.1297del	XP_024302106.1:p.Leu433TrpfsTer2
NM_006623.4:c.1186del MANE Select	NP_006614.2:p.Leu396TrpfsTer2